Results 31 to 40 of about 2,684 (177)

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

but not α-helices, β-nanotubes, β-pseudohelices, or steric zippers [PDF]

, 2014
A common thread connecting nine fatal neurodegenerative protein aggregation diseases is an abnormally expanded polyglutamine tract found in the respective proteins.
Ignatova, Zoya, Knecht, Volker, Miettinen, Markus Sakari, Monticelli, Luca, Nedumpully-Govindan, Praveen   +4 more
core   +1 more source

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, EarlyView.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source

Quantitative Analysis of Locus Coeruleus Neurons and Thalamic Noradrenergic Axons in a Progressive 1‐Methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine Monkey Model of Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease is mainly characterized by dopaminergic neurodegeneration in the substantia nigra pars compacta (SNc) and α‐synuclein accumulation. The locus coeruleus (LC) is also affected in Parkinson's disease and linked to some nonmotor symptoms, but the extent and timing of its degeneration remain unclear.
Megan Carrillo, Nagore Hernández‐Pinedo, Josefa Zaldivar‐Diez, Isabel Pérez‐Santos, José A. Obeso, Carmen Cavada, Javier Blesa   +6 more
wiley   +1 more source

The importance of central auditory evaluation in Friedreich's ataxia

Arquivos de Neuro-Psiquiatria
Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance ...
Bianca Simone Zeigelboim, Hélio A. G. Teive, Michèlli Rodrigues da Rosa, Jéssica Spricigo Malisky, Vinicius Ribas Fonseca, Jair Mendes Marques, Paulo Breno Liberalesso   +6 more
doaj   +1 more source

Spinocerebellar Degeneration

Pediatric Neurology Briefs, 1987
Two children, an 8-year old boy and a 6-year old girl, with progressive ataxia, dysmetria, hypoactive or absent deep tendon reflexes, equivocal plantar response, and sensory impairments, were investigated by pathologists and neurologists at the University of Vermont, Burlington, VT, and University of Saskatchewan, Saskatoon, Canada.
openaire   +3 more sources

Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment [PDF]

, 2018
Late onset of hereditary cerebellar cortical abiotrophy has been described in a large variety of canine breeds. In some reported conditions, the cerebellar lesion is combined with degeneration of other systems.
Hanzlíček, D., Navarro, C., Sisó, S., Vandevelde, M.   +3 more
core  

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review [PDF]

, 2021
ObjectiveTo understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling ...
Crook, A, Jacobs, C, McEwen, A, Newton-John, T, O’Shea, R   +4 more
core   +1 more source

Newly identified properties of known pharmaceuticals and myxobacterial small molecules revealed by screening for autophagy modulators

The FEBS Journal, EarlyView.
Autophagy is a cellular degradation process involved in, for example, immune responses to pathogens and neurodegeneration. To identify modulators of autophagy, we developed a microscopy‐based screening assay and identified previously unknown autophagy‐modulating activities in known drugs and natural products from myxobacteria and fungi.
Janine Fichtner, Yan Yan Beer, H. G. Mauricio Ramm, Sabrina Mühlen, Frank Surup, Jennifer Herrmann, Toni Luise Meister, Stephanie Pfaender, Ursula Bilitewski, Mark Brönstrup, Rolf Müller, Manfred Wirth, Eeva‐Liisa Eskelinen, Ingo Schmitz   +13 more
wiley   +1 more source

Platelet Taurine Uptake in Spinocerebellar Degeneration [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1978
SUMMARY:The uptake of 14C-laurine was studied in the platelets of 20 ataxic patients and 20 age-matched normal control subjects. No significant differences were found in uptake or kinetics of taurine between the two groups of subjects. If a transport defect in taurine exists in Friedreich's ataxia, it is not present in all tissues.
FILLA, ALESSANDRO, R. F. Butterworth, G. Geoffroy, B. Lemieux, A. Barbeau   +4 more
openaire   +3 more sources